ACHONDROPLASIA (aka DWARFISM) By: Nick Rothschild & Kevin Wright p.4
Achondroplasia is… • An autosomal dominant disorder that causes: • non-proportional short stature • short limbs fingers and toes • large head/prominent forehead • Slow motor movement • low muscle tone • Obesity • abnormal skull leads to middle ear infections • convex or concave spinal curvature (hypnosis and lordosis)
Medical: • Dominant mutation in fibrolast growth factor receptor gene 3, abnormality of cartilage function, people w/ disease have one normal copy and one mutated copy of gene • If both parents are heterozygous: 50% chance child will have disease, 25% chance child will be homozygous (fatal), 25% chance they will be normal
Diagnosis/Treatment: • Diagnosed via Prenatal ultrasound or DNA/genetic testing. • There are no true treatments for this disease however some complications of it can be treated. These include: nerve compression, bowed legs, abnormal spine curvature, middle ear infections. Most treatments involve surgical realignment of the spine or legs. • New research includes studies on the genetic nature of disease, inheritance patterns, specific gene(s) involved and possible gene therapy. • Normal life expectancy
Personal: • Because of their drastic height difference, they attract a lot of attention in public. • Restricted Growth individuals often have trouble walking along with spinal issues, usually resulting in surgery. • With the modern technology we have, there aren’t many limitations to Restricted Growth individuals. For example, RG people can drive thanks to pedal extensions welded on to the normal car pedals. • It is possible through gene therapy that a cure may be found, but like all genetic diseases it is going to take years of research to find a cure that works. • The NORD (National Organization for Rare Disorders) does a lot to help with research and public knowledge of the disease. Other organizations that help RG families cope with the disorder include: March of Dimes Birth Defects Foundation, Human Growth Foundation, Little People's Research Fund, Inc., and Little People of America, Inc.
Sources/Organizations: • http://www.marchofdimes.com • http://www.hgfound.org/ • http://www.lprf.org • http://www.lpaonline.org • http://www.wikipedia.com • http://www.cigna.com/healthinfo/nord80.html